Molecular Biology and Genetics (GATE)
| Description: GATE | |
| Number of Questions: 15 | |
| Created by: Karuna Seth | |
| Tags: GATE Heritable Diseases Biotechnology Molecular Basis of Genetic diseases and applications Molecular Basis of Genetic Diseases and Applications |
Which of the following is a grievous genetic skin disease that causes thickening of the stratum corneum of the epidermis?
Which of the following is an autosomal dominant genetic disorder that causes unwanted blood vessel formation in skin, mucosa, lungs, liver and brain?
Which of the following is the disorder of connective tissues in which the skin becomes inelastic and hangs loosely in folds?
Which of the following is an exceedingly rare autosomal recessive disorder which causes oculocutaneous albinism, bleeding problems due to a thrombocyte's oddity and deposit of an unusual fat-protein compound?
Which of the following is a cutaneous condition that causes cystic and solid nodules to appear on the face?
Which of the following disorders causes abnormal thickening of the palms and soles and is associated with keratin 9 and keratin 16?
Which of the following disorders is incorrectly described?
Which of the following disorders causes unusual development of skin, hair, nails, dents and sudoriparous glands?
Which of the following is a congenital neurological and skin disorder that is caused by somatic activating mutation that occurs in the GNAQ gene?
Match the following ||| |---|---| |List - I | List - II| |P. Ehlers-Danlos syndrome|1. Autosomal dominant disorder| |Q. Acrokeratosis verruciformis|2. X-linked recessive connective tissue disorder| |R. Louis-Bar syndrome|3. X-linked congenital disorder| |S. Orofaciodigital syndrome 1|4. Autosomal recessive disorder|
Which of the following disorders causes abnormalities of the ectodermal structure?
Match the following:
| Column - I | Column - II |
| P. Zinsser-Cole-Engman syndrome | 1. Rare recessive genetic disorder of skin with poor wound healing |
| Q. Urbach-Wiethe disease | 2. Autosomal dominant disorder caused by mutations in a connexin gene, GJB6/connexin-30 |
| R. Mendes da Costa syndrome | 3. Rare progressive congenital disorder with a highly variable phenotype |
| S. Clouston syndrome | 4. Rare genetic lysosomal storage disease, inherited in an X-linked manner |
| 5. Rare autosomal dominant disorder caused by the mutations in genes encoding for connexin channels proteins in the epidermis |
Which of the following is a genetic disorder that causes varying degrees of deafness, minor defects in structures and pigmentation inconsistencies?
Which of the following is a rare congenital disorder of the skin that is caused by a mutation in the KIND1 gene?
Which of the following is a rare form of lipodystrophy that affects the head and then, spreads to the thorax?